Canonical Allele Identifier: CA381656195

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69078926-T-G
• MyVariant Identifiers: chr11:g.68846394T>G (hg19) ; chr11:g.69078926T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078926T>G , CM000673.2:g.69078926T>G	GRCh38
NC_000011.9:g.68846394T>G , CM000673.1:g.68846394T>G	GRCh37
NC_000011.8:g.68602970T>G	NCBI36
NG_016153.1:g.35045T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.302T>G	ENSP00000509200.1:p.Leu101Trp
ENST00000294309.8:c.1445T>G MANE Select	ENSP00000294309.3:p.Leu482Trp
ENST00000635811.1:c.1445T>G	ENSP00000490341.1:p.Leu482Trp
ENST00000637084.1:c.302T>G	ENSP00000490615.1:p.Leu101Trp
ENST00000637342.1:c.1445T>G	ENSP00000490171.1:p.Leu482Trp
ENST00000637504.1:c.1445T>G	ENSP00000489759.1:p.Leu482Trp
ENST00000294309.7:c.1445T>G	ENSP00000294309.3:p.Leu482Trp
ENST00000442692.2:n.1038T>G
ENST00000535009.5:n.1254T>G
ENST00000542467.1:c.1445T>G	ENSP00000445551.1:p.Leu482Trp
NM_139075.3:c.1445T>G	NP_620714.2:p.Leu482Trp
XM_005273824.2:c.1442T>G	XP_005273881.1:p.Leu481Trp
XM_005273826.2:c.1190T>G	XP_005273883.1:p.Leu397Trp
XM_005273827.2:c.1445T>G	XP_005273884.1:p.Leu482Trp
XM_005273828.2:c.1445T>G	XP_005273885.1:p.Leu482Trp
XM_005273830.2:c.752T>G	XP_005273887.1:p.Leu251Trp
XM_005273831.2:c.752T>G	XP_005273888.1:p.Leu251Trp
XM_005273832.2:c.722T>G	XP_005273889.1:p.Leu241Trp
XM_006718453.2:c.1445T>G	XP_006718516.1:p.Leu482Trp
XM_006718454.2:c.1445T>G	XP_006718517.1:p.Leu482Trp
XM_006718456.2:c.1445T>G	XP_006718519.1:p.Leu482Trp
XM_011544802.1:c.1205T>G	XP_011543104.1:p.Leu402Trp
XM_011544803.1:c.1445T>G	XP_011543105.1:p.Leu482Trp
XM_011544804.1:c.1445T>G	XP_011543106.1:p.Leu482Trp
XM_011544805.1:c.1445T>G	XP_011543107.1:p.Leu482Trp
XM_011544806.1:c.1445T>G	XP_011543108.1:p.Leu482Trp
XM_011544807.1:c.749T>G	XP_011543109.1:p.Leu250Trp
XM_011544808.1:c.614T>G	XP_011543110.1:p.Leu205Trp
XR_247191.1:n.1546T>G
XM_005273824.4:c.1442T>G	XP_005273881.1:p.Leu481Trp
XM_005273826.4:c.1190T>G	XP_005273883.1:p.Leu397Trp
XM_005273830.4:c.752T>G	XP_005273887.1:p.Leu251Trp
XM_005273831.4:c.752T>G	XP_005273888.1:p.Leu251Trp
XM_005273832.4:c.722T>G	XP_005273889.1:p.Leu241Trp
XM_011544802.3:c.1205T>G	XP_011543104.1:p.Leu402Trp
XM_011544807.3:c.749T>G	XP_011543109.1:p.Leu250Trp
XM_011544808.3:c.614T>G	XP_011543110.1:p.Leu205Trp
XM_017017328.2:c.1276T>G	XP_016872817.1:p.Trp426Gly
XM_017017329.2:c.1273T>G	XP_016872818.1:p.Trp425Gly
XM_017017330.2:c.722T>G	XP_016872819.1:p.Leu241Trp
XM_017017331.2:c.722T>G	XP_016872820.1:p.Leu241Trp
XM_017017332.2:c.536T>G	XP_016872821.1:p.Leu179Trp
XM_017017333.2:c.553T>G	XP_016872822.1:p.Trp185Gly
XM_017017334.2:c.553T>G	XP_016872823.1:p.Trp185Gly
XM_017017335.2:c.553T>G	XP_016872824.1:p.Trp185Gly
XM_017017336.2:c.445T>G	XP_016872825.1:p.Trp149Gly
XM_024448392.1:c.1235T>G	XP_024304160.1:p.Leu412Trp
XM_024448393.1:c.722T>G	XP_024304161.1:p.Leu241Trp
XR_001747789.2:n.1377T>G
XR_001747790.2:n.1377T>G
XR_247191.3:n.1549T>G
NM_139075.4:c.1445T>G MANE Select	NP_620714.2:p.Leu482Trp